Resources & publications
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2020Journal (source)J. Pediatr.From Dysgammaglobulinemia to Autosomal-Dominant Activation-Induced Cytidine D...
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2020Journal (source)Science
Auto-antibodies against type I IFNs in patients with life-threatening COVID-19.
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2020Journal (source)Science
Inborn errors of type I IFN immunity in patients with life-threatening COVID-19.
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2020Journal (source)J Pediatr
From Dysgammaglobulinemia to Autosomal-Dominant Activation-Induced Cytidine D...
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2017Journal (source)J Clin Immunol
Neutropenia in Patients with Common Variable Immunodeficiency: a Rare Event A...
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2017Journal (source)Am J Hum Genet
Mutations in TUBB4B Cause a Distinctive Sensorineural Disease.
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2017Journal (source)Am J Hum Genet
Mutations in TUBB4B Cause a Distinctive Sensorineural Disease.
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2022Journal (source)Am J Hum Genet
Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with c...
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2017Journal (source)Am J Hum Genet
Mutations in TUBB4B Cause a Distinctive Sensorineural Disease.